ETHE1

ETHE1 is a gene that provides instructions for making a protein called eukaryotic translation initiation factor 1. This protein is essential for the process of translation, which is how cells use the genetic information encoded in messenger RNA (mRNA) to build proteins. Specifically, eukaryotic translation initiation factor 1 plays a role in the very beginning stages of translation, helping to assemble the protein-making machinery of the cell, called the ribosome, onto the mRNA molecule. This initial step is critical for ensuring that protein synthesis starts at the correct location on the mRNA. Mutations in the ETHE1 gene have been linked to a rare genetic disorder called ethylmalonic encephalopathy. This condition is characterized by a buildup of certain organic acids in the body and can lead to neurological problems, developmental delays, and other severe health issues. Research into the precise function of ETHE1 and the mechanisms by which its mutations cause disease is ongoing, aiming to better understand the molecular basis of this disorder and potentially develop therapeutic strategies.